Genomic variant #0000442824

Individual ID 00210264
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46902231C>T
DNA change (hg38) -
Published as Arg81His
ISCN -
DB-ID MYL3_000018
Variant remarks not in 192 control chromosomes
Reference PubMed: Fokstuen 2008, PubMed: Fokstuen 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MYL3 NM_000258.2 +/. 3 c.242G>A pathogenic r.(?) p.(Arg81Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211340 DNA arraySEQ;SEQ - - MYL3 1 Johan den Dunnen